| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127668132G>A | CA151362 | STXBP1 | c.805G>A (p.Glu269Lys) c.847G>A (p.Glu283Lys) c.*489G>A (n.*489G>A) c.*1711G>A (n.*1711G>A) c.789G>A n.683G>A c.838G>A (p.Glu280Lys) c.795-1766G>A (n.795-1766G>A) | ClinVar dbSNP |
| 9 | g.127668132G= | CA1879913526 | STXBP1 | c.805G= (p.Glu269=) c.847G= (p.Glu283=) c.*489G= (n.*489G=) c.*1711G= (n.*1711G=) c.789G= n.683G= c.838G= (p.Glu280=) c.795-1766G= (n.795-1766G=) | dbSNP |